ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825208596
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
684865
ClinVar RCV Id:
RCV000845539
RCV004002901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ser194Gly
CA305296881
NM_000527.5:c.580A>G